Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44).

Establishment of diagnostic reference levels in computed tomography in two large hospitals in Oman.

This study aimed to estimate diagnostic reference levels (DRLs) for the most frequent computed tomography (CT) imaging examinations to monitor and better control radiation doses delivered to patients. Seven CT imaging examinations: Head, Chest, Chest High Resolution (CHR), Abdomen Pelvis (AP), Chest Abdomen Pelvis (CAP), Kidneys Ureters Bladder (KUB) and Cardiac, were considered. CT dosimetric quantities and patient demographics were collected from data storage systems.

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant : c.

A First-Case Report of Pycnodysostosis in an Omani Boy.

Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the patient's deoxyribonucleic acid revealed a variant in the cathepsin K gene, which was confirmed by Sanger sequencing.

Spondylo-ocular Syndrome Due to a Novel Variant in in an Omani Patient.

Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.

High prevalence of vitamin D deficiency among healthy Saudi Arabian men: relationship to bone mineral density, parathyroid hormone, bone turnover markers, and lifestyle factors.

Summary: In this cross-sectional study, the prevalence of vitamin D deficiency [serum 25-hydroxyvitamin D (25(OH)D) <50 nmol/L] was 87.8% among Saudi Arabian men. There was a linear inverse relationship between serum 25(OH)D and intact parathyroid hormone (PTH) levels, but without a threshold of 25(OH)D at which intact PTH values plateaued.

Reference intervals of biochemical bone turnover markers for Saudi Arabian women: a cross-sectional study.

Biochemical bone turnover markers (BTMs) provide important information on the diagnosis, therapy and monitoring of metabolic bone diseases including osteoporosis. One goal of antiresorptive therapy in women is to decrease biochemical BTMs to the lower half of reference intervals for healthy pre-menopausal counterparts, using newly developed automated assays of such markers. The main objectives of the present study were to: (1) establish reference interval values for the following biochemical BTMs: serum osteocalcine (s-OC), bone alkaline phosphatase (s-bone ALP), procollagen type 1 N-terminal propeptide (s-PINP), crosslinked C-terminal telopeptide of Type 1 collagen (s-CTX), tartarate-resistant acid phosphatase isoform 5b (s-TRACP-5b) and urinary: CTX (u-CTX), N-telopeptides of type 1 collagen (u-NTX), pyridinoline (u-PYD) and deoxypyridinoline (u-DPD) in randomly selected Saudi healthy pre-menopausal women; (2) study the changes in biochemical BTMs in relation to age in pre- and post-menopausal women and the factors reported to influence bone turnover and (3) determine the effect of menopausal status on BTMs.

Vitamin D status in relation to obesity, bone mineral density, bone turnover markers and vitamin D receptor genotypes in healthy Saudi pre- and postmenopausal women.

Unlabelled: The various factors that may contribute to vitamin D deficiency or insufficiency were examined among healthy Saudi pre- and postmenopausal women. Vitamin D deficiency was highly prevalent among studied Saudi women with obesity, poor sunlight exposure, poor dietary vitamin D supplementation and age as the main risk factors.

Introduction: The various factors that may contribute to vitamin D deficiency or insufficiency in relation to bone health among Saudi women are not known.

Growth modification of the mandible with ultrasound in baboons: a preliminary report.

Introduction: Growth modification for patients with skeletal Class II malocclusions due to mandibular deficiency is controversial. Low-intensity pulsed ultrasound (LIPUS) can modify mandibular growth in growing rabbits. Before applying this treatment to humans, we must study the effect on mandibular growth in higher animal models.

Subacute thyroiditis in Western Saudi Arabia.

Objectives: The aim of this study is to assess the clinical presentation of 23 patients with subacute thyroiditis (SAT) and the diagnostic value of radionuclear scan.

Methods: This is a cohort study, which consists of 23 patients with a suspected diagnosis of subacute thyroiditis. The study was carried out in the Endocrinology Clinic, King Abdul-Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia between July 2002 and July 2004.

Wandering spleen.

Congenital malformations of the spleen are rare. We report 3 cases of wandering spleen presented as abdominal or pelvi-abdominal mass. Two patients were suffering from chronic lower abdominal pain with thrombosed splenic pedicle and the third patient had an acute abdomen.

Spontaneous rupture of hepatocellular carcinoma.

Hepatocellular carcinoma is the most common malignancy among males and the 7th among female patients in the Kingdom of Saudi Arabia. This is due to the endemicity of hepatitis B and hepatitis C. Spontaneous rupture of hepatocellular carcinoma is rare.

Screening for abdominal aortic aneurysm in the Jeddah area, western Saudi Arabia.

Atherosclerosis and its complications are associated with high morbidity and mortality in the elderly. One of these complications is abdominal aortic aneurysm which may be prevented from rupturing if diagnosed early. Screening for aortic aneurysm was carried out in Jeddah, which is in the western region of Saudi Arabia, to identify the magnitude of this problem.